Incidental Mutation 'R7075:Mphosph9'
ID |
549154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mphosph9
|
Ensembl Gene |
ENSMUSG00000038126 |
Gene Name |
M-phase phosphoprotein 9 |
Synonyms |
4930548D04Rik, MPP9, B930097C17Rik, 9630025B04Rik, MPP-9 |
MMRRC Submission |
045170-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7075 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124389022-124466001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 124458922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 83
(W83G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031344]
[ENSMUST00000130502]
[ENSMUST00000141203]
[ENSMUST00000147737]
[ENSMUST00000184951]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031344
AA Change: W83G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031344 Gene: ENSMUSG00000038126 AA Change: W83G
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
coiled coil region
|
574 |
736 |
N/A |
INTRINSIC |
low complexity region
|
879 |
898 |
N/A |
INTRINSIC |
low complexity region
|
957 |
971 |
N/A |
INTRINSIC |
coiled coil region
|
1040 |
1105 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130502
|
SMART Domains |
Protein: ENSMUSP00000120827 Gene: ENSMUSG00000038126
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141203
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147737
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184951
AA Change: W83G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138982 Gene: ENSMUSG00000038126 AA Change: W83G
Domain | Start | End | E-Value | Type |
coiled coil region
|
102 |
130 |
N/A |
INTRINSIC |
low complexity region
|
132 |
149 |
N/A |
INTRINSIC |
low complexity region
|
158 |
170 |
N/A |
INTRINSIC |
low complexity region
|
444 |
458 |
N/A |
INTRINSIC |
coiled coil region
|
604 |
766 |
N/A |
INTRINSIC |
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
low complexity region
|
987 |
1001 |
N/A |
INTRINSIC |
coiled coil region
|
1070 |
1135 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (60/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp1 |
A |
T |
12: 85,325,782 (GRCm39) |
H72Q |
unknown |
Het |
Afmid |
T |
A |
11: 117,726,531 (GRCm39) |
D218E |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,693,042 (GRCm39) |
V1A |
|
Het |
Atf7ip |
T |
C |
6: 136,573,513 (GRCm39) |
|
probably null |
Het |
BC024139 |
C |
T |
15: 76,008,599 (GRCm39) |
V326I |
probably benign |
Het |
Bfsp1 |
T |
A |
2: 143,690,885 (GRCm39) |
Q159L |
probably damaging |
Het |
Cct2 |
A |
T |
10: 116,897,370 (GRCm39) |
W125R |
unknown |
Het |
Cnksr3 |
G |
T |
10: 7,102,931 (GRCm39) |
T147K |
probably benign |
Het |
Colq |
C |
G |
14: 31,274,866 (GRCm39) |
G101R |
probably damaging |
Het |
Dlg5 |
G |
T |
14: 24,227,865 (GRCm39) |
T352K |
possibly damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Ebna1bp2 |
T |
C |
4: 118,479,299 (GRCm39) |
V119A |
probably benign |
Het |
Eif2ak4 |
C |
T |
2: 118,251,291 (GRCm39) |
Q318* |
probably null |
Het |
Eif2b1 |
G |
A |
5: 124,709,314 (GRCm39) |
T286M |
probably damaging |
Het |
Fam53b |
G |
T |
7: 132,361,352 (GRCm39) |
D225E |
probably damaging |
Het |
Fh1 |
A |
G |
1: 175,435,421 (GRCm39) |
I354T |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,948,926 (GRCm39) |
H206R |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,973,444 (GRCm39) |
D74E |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,155,595 (GRCm39) |
V246E |
possibly damaging |
Het |
Glt6d1 |
T |
C |
2: 25,685,292 (GRCm39) |
R44G |
probably benign |
Het |
Gm17087 |
T |
C |
17: 8,785,635 (GRCm39) |
M23V |
probably benign |
Het |
Gpr160 |
A |
T |
3: 30,950,926 (GRCm39) |
I333L |
possibly damaging |
Het |
Hars1 |
T |
C |
18: 36,905,408 (GRCm39) |
N142S |
possibly damaging |
Het |
Hmgcll1 |
T |
C |
9: 75,963,834 (GRCm39) |
V97A |
possibly damaging |
Het |
Itih4 |
T |
G |
14: 30,614,560 (GRCm39) |
V474G |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,466,004 (GRCm39) |
S41T |
probably damaging |
Het |
Keap1 |
C |
T |
9: 21,142,552 (GRCm39) |
V568I |
probably benign |
Het |
Kifc5b |
A |
G |
17: 27,144,872 (GRCm39) |
M633V |
probably benign |
Het |
Lsm4 |
A |
G |
8: 71,130,435 (GRCm39) |
E18G |
probably damaging |
Het |
Meox1 |
T |
A |
11: 101,784,569 (GRCm39) |
Q88L |
probably damaging |
Het |
Mettl25 |
T |
C |
10: 105,665,785 (GRCm39) |
N147S |
possibly damaging |
Het |
Or1j15 |
T |
C |
2: 36,459,192 (GRCm39) |
I194T |
probably benign |
Het |
Or5ak22 |
T |
C |
2: 85,230,544 (GRCm39) |
D111G |
probably damaging |
Het |
Or7e170 |
T |
A |
9: 19,795,359 (GRCm39) |
M81L |
probably benign |
Het |
Or8b4 |
T |
C |
9: 37,830,370 (GRCm39) |
V139A |
probably benign |
Het |
Or8h8 |
T |
G |
2: 86,752,990 (GRCm39) |
K295N |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,505,168 (GRCm39) |
Y109F |
|
Het |
Otogl |
G |
T |
10: 107,614,790 (GRCm39) |
T1954K |
probably benign |
Het |
Padi2 |
T |
C |
4: 140,660,528 (GRCm39) |
V336A |
probably damaging |
Het |
Phf21a |
C |
T |
2: 92,190,724 (GRCm39) |
Q675* |
probably null |
Het |
Ppip5k1 |
T |
C |
2: 121,152,231 (GRCm39) |
E1092G |
probably damaging |
Het |
Psg21 |
T |
C |
7: 18,388,786 (GRCm39) |
N102S |
probably damaging |
Het |
Ralgapa1 |
C |
A |
12: 55,867,508 (GRCm39) |
Q15H |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,398,043 (GRCm39) |
D26E |
unknown |
Het |
Rbp4 |
T |
C |
19: 38,112,509 (GRCm39) |
Y152C |
probably damaging |
Het |
Recql4 |
A |
G |
15: 76,590,624 (GRCm39) |
V646A |
possibly damaging |
Het |
Rnf220 |
A |
T |
4: 117,143,079 (GRCm39) |
M63K |
probably benign |
Het |
Selenok |
T |
C |
14: 29,692,024 (GRCm39) |
S21P |
probably damaging |
Het |
Senp1 |
A |
G |
15: 97,956,207 (GRCm39) |
V404A |
probably benign |
Het |
Sh3yl1 |
A |
G |
12: 30,990,165 (GRCm39) |
|
probably null |
Het |
Snx32 |
A |
G |
19: 5,547,018 (GRCm39) |
L275P |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,770,519 (GRCm39) |
V519A |
possibly damaging |
Het |
Tbc1d10b |
A |
T |
7: 126,802,410 (GRCm39) |
V388E |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
Tmem63a |
T |
A |
1: 180,788,714 (GRCm39) |
F350L |
probably damaging |
Het |
Trio |
A |
T |
15: 27,898,086 (GRCm39) |
I401K |
unknown |
Het |
Ttn |
T |
C |
2: 76,547,173 (GRCm39) |
E32291G |
probably damaging |
Het |
Tubgcp5 |
G |
T |
7: 55,479,155 (GRCm39) |
V1002L |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,433,240 (GRCm39) |
T410I |
possibly damaging |
Het |
Vmn1r1 |
A |
T |
1: 181,985,597 (GRCm39) |
F23I |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,226,941 (GRCm39) |
Q299L |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,258,557 (GRCm39) |
E499D |
probably benign |
Het |
|
Other mutations in Mphosph9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01363:Mphosph9
|
APN |
5 |
124,400,084 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Mphosph9
|
APN |
5 |
124,421,687 (GRCm39) |
splice site |
probably benign |
|
IGL01784:Mphosph9
|
APN |
5 |
124,403,373 (GRCm39) |
splice site |
probably benign |
|
IGL01958:Mphosph9
|
APN |
5 |
124,463,053 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02020:Mphosph9
|
APN |
5 |
124,397,013 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02190:Mphosph9
|
APN |
5 |
124,403,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02261:Mphosph9
|
APN |
5 |
124,398,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02569:Mphosph9
|
APN |
5 |
124,435,634 (GRCm39) |
nonsense |
probably null |
|
IGL02640:Mphosph9
|
APN |
5 |
124,453,563 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02702:Mphosph9
|
APN |
5 |
124,398,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02793:Mphosph9
|
APN |
5 |
124,421,800 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02813:Mphosph9
|
APN |
5 |
124,453,691 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02875:Mphosph9
|
APN |
5 |
124,421,800 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03149:Mphosph9
|
APN |
5 |
124,401,074 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Mphosph9
|
UTSW |
5 |
124,436,853 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0304:Mphosph9
|
UTSW |
5 |
124,436,892 (GRCm39) |
missense |
probably benign |
0.01 |
R0437:Mphosph9
|
UTSW |
5 |
124,453,631 (GRCm39) |
missense |
probably benign |
0.27 |
R0483:Mphosph9
|
UTSW |
5 |
124,445,033 (GRCm39) |
nonsense |
probably null |
|
R0811:Mphosph9
|
UTSW |
5 |
124,436,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Mphosph9
|
UTSW |
5 |
124,436,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Mphosph9
|
UTSW |
5 |
124,400,100 (GRCm39) |
nonsense |
probably null |
|
R1175:Mphosph9
|
UTSW |
5 |
124,453,739 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1372:Mphosph9
|
UTSW |
5 |
124,421,808 (GRCm39) |
splice site |
probably null |
|
R1442:Mphosph9
|
UTSW |
5 |
124,403,461 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1533:Mphosph9
|
UTSW |
5 |
124,405,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Mphosph9
|
UTSW |
5 |
124,453,764 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2036:Mphosph9
|
UTSW |
5 |
124,442,274 (GRCm39) |
missense |
probably damaging |
0.97 |
R2256:Mphosph9
|
UTSW |
5 |
124,421,722 (GRCm39) |
missense |
probably benign |
0.00 |
R2919:Mphosph9
|
UTSW |
5 |
124,399,069 (GRCm39) |
missense |
probably benign |
0.22 |
R2920:Mphosph9
|
UTSW |
5 |
124,399,069 (GRCm39) |
missense |
probably benign |
0.22 |
R4064:Mphosph9
|
UTSW |
5 |
124,428,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Mphosph9
|
UTSW |
5 |
124,442,266 (GRCm39) |
missense |
probably damaging |
0.96 |
R4430:Mphosph9
|
UTSW |
5 |
124,403,509 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4883:Mphosph9
|
UTSW |
5 |
124,437,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Mphosph9
|
UTSW |
5 |
124,442,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5815:Mphosph9
|
UTSW |
5 |
124,453,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Mphosph9
|
UTSW |
5 |
124,454,161 (GRCm39) |
missense |
probably benign |
0.40 |
R6102:Mphosph9
|
UTSW |
5 |
124,435,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6295:Mphosph9
|
UTSW |
5 |
124,458,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6320:Mphosph9
|
UTSW |
5 |
124,463,024 (GRCm39) |
missense |
probably damaging |
0.99 |
R6628:Mphosph9
|
UTSW |
5 |
124,436,825 (GRCm39) |
missense |
probably damaging |
0.98 |
R6692:Mphosph9
|
UTSW |
5 |
124,398,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6705:Mphosph9
|
UTSW |
5 |
124,429,027 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6747:Mphosph9
|
UTSW |
5 |
124,435,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6787:Mphosph9
|
UTSW |
5 |
124,399,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R6850:Mphosph9
|
UTSW |
5 |
124,399,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Mphosph9
|
UTSW |
5 |
124,435,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Mphosph9
|
UTSW |
5 |
124,454,180 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:Mphosph9
|
UTSW |
5 |
124,453,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Mphosph9
|
UTSW |
5 |
124,399,009 (GRCm39) |
missense |
probably damaging |
0.99 |
R7823:Mphosph9
|
UTSW |
5 |
124,442,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R7891:Mphosph9
|
UTSW |
5 |
124,428,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R8210:Mphosph9
|
UTSW |
5 |
124,405,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R8256:Mphosph9
|
UTSW |
5 |
124,393,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Mphosph9
|
UTSW |
5 |
124,450,785 (GRCm39) |
missense |
probably benign |
0.19 |
R8438:Mphosph9
|
UTSW |
5 |
124,430,455 (GRCm39) |
missense |
probably benign |
0.19 |
R8692:Mphosph9
|
UTSW |
5 |
124,450,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R8790:Mphosph9
|
UTSW |
5 |
124,453,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Mphosph9
|
UTSW |
5 |
124,463,027 (GRCm39) |
nonsense |
probably null |
|
R8847:Mphosph9
|
UTSW |
5 |
124,454,209 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9018:Mphosph9
|
UTSW |
5 |
124,436,713 (GRCm39) |
missense |
probably benign |
0.12 |
R9208:Mphosph9
|
UTSW |
5 |
124,450,854 (GRCm39) |
missense |
probably damaging |
0.97 |
R9221:Mphosph9
|
UTSW |
5 |
124,403,427 (GRCm39) |
missense |
probably benign |
0.10 |
R9603:Mphosph9
|
UTSW |
5 |
124,463,015 (GRCm39) |
nonsense |
probably null |
|
R9721:Mphosph9
|
UTSW |
5 |
124,436,738 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTGAGGCCACCACCTTCC -3'
(R):5'- CAACGCTTCAGTCCAATGAGG -3'
Sequencing Primer
(F):5'- TTTCTTGTTCCTTCAGTATCGGTG -3'
(R):5'- CCAATGAGGAAAACCATCTGAATTG -3'
|
Posted On |
2019-05-15 |